Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Osteogenesis Imperfecta Type I
Synonyms
Definitions	The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
ID	http://purl.obolibrary.org/obo/NCIT_C99003
code	C99003
Contributing_Source	Cellosaurus NICHD
definition	The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C99147
label	Osteogenesis Imperfecta Type I
Preferred_Name	Osteogenesis Imperfecta Type I
prefixIRI	NCIT:C99003
prefLabel	Osteogenesis Imperfecta Type I
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0023931
subClassOf	http://purl.obolibrary.org/obo/NCIT_C26837

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/385482004	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/166200	OMIM	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta_Type_I	PEDTERM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta_Type_I	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_14708	CLO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG51300	RCTV2	LOOM
http://purl.bioontology.org/ontology/RCD/PG513	RCD	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14899	DERMLEX	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99003	NCIT	LOOM